Canonical Allele Identifier: CA347179195
Gene: CD207 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.70831139C>T
GRCh37 chr2:g.71058270C>T
Revel Score:
ENST00000410009 (MANE Select) 0.046
gnomAD v2:
2:71058270 C / T
gnomAD v3:
2:70831139 C / T
gnomAD v4:
chr2-70831139-C-T
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
dbSNP:
2080391
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70831139C>T , CM000664.2:g.70831139C>T GRCh38
NC_000002.11:g.71058270C>T , CM000664.1:g.71058270C>T GRCh37
NC_000002.10:g.70911778C>T NCBI36
NG_033914.1:g.9685G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000410009.5:c.898G>A MANE Select ENSP00000386378.3:p.Ala300Thr
ENST00000410009.4:c.898G>A ENSP00000386378.3:p.Ala300Thr
NM_015717.4:c.898G>A NP_056532.4:p.Ala300Thr
XM_011532874.1:c.898G>A XP_011531176.1:p.Ala300Thr
XM_011532875.1:c.850+48G>A XP_011531177.1:n.850+48G>A
XM_011532876.1:c.836+562G>A XP_011531178.1:n.836+562G>A
XM_011532875.2:c.850+48G>A XP_011531177.1:n.850+48G>A
XM_011532876.2:c.836+562G>A XP_011531178.1:n.836+562G>A
NM_015717.5:c.898G>A MANE Select NP_056532.4:p.Ala300Thr
Search 100 bp 5'
Search 100 bp 3'